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Cerebral Venous Thrombosis and Livedo Reticularis in a Case with MTHFR 677TT Homozygote
Hyperhomocysteinemia associated with methylene terahydrofolate reductase (MTHFR) mutation can be a risk factor for idiopathic cerebral venous thrombosis. We describe the first case of MTHFR 677TT homozygote with cerebral venous thrombosis and livedo reticularis. A 45-year-old man presented with seiz...
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Formato: | Texto |
Lenguaje: | English |
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Korean Neurological Association
2006
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2854954/ https://www.ncbi.nlm.nih.gov/pubmed/20396498 http://dx.doi.org/10.3988/jcn.2006.2.2.137 |
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author | Lee, Jee-Young Kim, Manho |
author_facet | Lee, Jee-Young Kim, Manho |
author_sort | Lee, Jee-Young |
collection | PubMed |
description | Hyperhomocysteinemia associated with methylene terahydrofolate reductase (MTHFR) mutation can be a risk factor for idiopathic cerebral venous thrombosis. We describe the first case of MTHFR 677TT homozygote with cerebral venous thrombosis and livedo reticularis. A 45-year-old man presented with seizures and mottled-like skin lesions, that were aggravated by cold temperature. Hemorrhagic infarct in the right frontoparietal area with superior sagittal sinus thrombosis was observed. He had hyperhomocysteinemia, low plasma folate level, and MTHFR 677TT homozygote genotype, which might be associated with livedo reticularis and increase the risk for cerebral venous thrombosis. |
format | Text |
id | pubmed-2854954 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2006 |
publisher | Korean Neurological Association |
record_format | MEDLINE/PubMed |
spelling | pubmed-28549542010-04-15 Cerebral Venous Thrombosis and Livedo Reticularis in a Case with MTHFR 677TT Homozygote Lee, Jee-Young Kim, Manho J Clin Neurol Case Report Hyperhomocysteinemia associated with methylene terahydrofolate reductase (MTHFR) mutation can be a risk factor for idiopathic cerebral venous thrombosis. We describe the first case of MTHFR 677TT homozygote with cerebral venous thrombosis and livedo reticularis. A 45-year-old man presented with seizures and mottled-like skin lesions, that were aggravated by cold temperature. Hemorrhagic infarct in the right frontoparietal area with superior sagittal sinus thrombosis was observed. He had hyperhomocysteinemia, low plasma folate level, and MTHFR 677TT homozygote genotype, which might be associated with livedo reticularis and increase the risk for cerebral venous thrombosis. Korean Neurological Association 2006-06 2006-06-20 /pmc/articles/PMC2854954/ /pubmed/20396498 http://dx.doi.org/10.3988/jcn.2006.2.2.137 Text en Copyright © 2006 Korean Neurological Association |
spellingShingle | Case Report Lee, Jee-Young Kim, Manho Cerebral Venous Thrombosis and Livedo Reticularis in a Case with MTHFR 677TT Homozygote |
title | Cerebral Venous Thrombosis and Livedo Reticularis in a Case with MTHFR 677TT Homozygote |
title_full | Cerebral Venous Thrombosis and Livedo Reticularis in a Case with MTHFR 677TT Homozygote |
title_fullStr | Cerebral Venous Thrombosis and Livedo Reticularis in a Case with MTHFR 677TT Homozygote |
title_full_unstemmed | Cerebral Venous Thrombosis and Livedo Reticularis in a Case with MTHFR 677TT Homozygote |
title_short | Cerebral Venous Thrombosis and Livedo Reticularis in a Case with MTHFR 677TT Homozygote |
title_sort | cerebral venous thrombosis and livedo reticularis in a case with mthfr 677tt homozygote |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2854954/ https://www.ncbi.nlm.nih.gov/pubmed/20396498 http://dx.doi.org/10.3988/jcn.2006.2.2.137 |
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